Friday, August 17, 2007

Isabel & Cicily - We left them on the floor to play and in our hotel room and after a matter of minutes they had the contents of Ondria's purse scattered and shared! Lookout Gma and Gpa's playroom in a couple years! :) Guilty! :) It was a HOT afternoon, too hot to swim outside, so we swam in Mom and Dad's bathroom! Love the sepia sleeper pics Just enjoying a good book on her "therapy step"

Friday, August 3, 2007

Cicily has a craniofacial condition called Treacher Collins Syndrome(TCS). For Cicily this basically means she has a cleft palate, small lower jaw, small ears, and no ear canals. When put that way it actually sounds quite simple! In reality because of these things Cicily sees 12 doctors on a regular basis, has 4 therapists, and will probably have 15-25 or so surgeries. It's absolutely amazing the "domino effect" that happens when one little mutation occurs when a fetus is developing! Cis is such a tough little baby though, and she's so easy going. She handles all of her difficulties so well already, she's certainly up for her challenges!

TCS does not affect cognitive (brain/learning) development or physical development (however she is somewhat physically delayed because she's been so sick).

Cicily's cleft palate (which does not include a cleft lip), is very "wide". She pretty much does not have a "roof of her mouth", you can see her nasal bone by looking into her mouth. This impairs eating and speaking. The current timeframe for reconstructing the cleft is when she is 1 1/2 - 2 years old.

Hersmall lower jaw is the reason for her trach. As I've learned, our tongues are connected to our lower jaws. Cicily's lower jaw is small and underdeveloped. Therefore, this causes the placement of her tongue to be further back than usual and it rests on top of her airway (trachea, or "windpipe") not allowing air to enter or leave her mouth/nose. Her lower jaw will be grown through a procedure called a jaw distraction (current timeframe: 2-4 yrs old).

Finally Cicily has small ears and no ear canals. To make her appearance more "normal" (although her Mom honestly loves those little ears and will miss them!), she will have ears constructed when she is anywhere from 4-7 years old. Because she does not have ear canals she has a hearing loss and uses bone conduction hearing aids (implanted at 1 yr. old) to help her hear better.Links for more TCS information:(please keep in mind TCS has a broad spectrum with ranges from mild to severe, Cicily's case is somewhat moderate)http://www.treachercollins.org/main.html Amie's (a pediatric med student w/TCS) site about TCS, includes great personal stories and pictures from a variety of people with TCS.http://www.ccakids.com/Syndrome/Treachers.PDF My favorite comprehensive info on TCShttp://www.faces-cranio.org/Disord/Treacher.htm A good condensed resource on TCS

New to Cicily's blog? Read some FAQs about Cicily:

Cicily at 8 years old

About Cicily

Cicily has degenerative hypomyelination (leukodystrophy) - no white matter coating her brain, which is terminal. For Cicily, this means she has limited motor control and "shakey" movements. It does not affect Cicily's cognitive abilities, as she communicates and learns at a standard level for her age.

Cicily also has Treacher Collins Syndrome. For Cicily this basically means she was born with a cleft palate, small lower jaw, small ears, and no ear canals.

Cis is such a tough girl though, and she's so easy going. She handles all of her difficulties so well. She's certainly up for her challenges! She continues to be a medical mystery and a joyful girl.